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Tytuł :
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
Autorzy :
Glanzman AM
McDermott MP
Montes J
Martens WB
Flickinger J
Riley S
Quigley J
Dunaway S
O'Hagen J
Deng L
Chung WK
Tawil R
Darras BT
Yang M
Sproule D
De Vivo DC
Kaufmann P
Finkel RS;
Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR);
Muscle Study Group (MSG).
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Źródło :
Pediatric Physical Therapy; 2011 Winter, Vol. 23 Issue 4, p322-326, 5p
Czasopismo naukowe
Tytuł :
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy.
Autorzy :
Montes J
McDermott MP
Martens WB
Dunaway S
Glanzman AM
Riley S
Quigley J
Montgomery MJ
Sproule D
Tawil R
Chung WK
Darras BT
De Vivo DC
Kaufmann P
Finkel RS
Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network
Montes, J
McDermott, M P
Martens, W B
Dunaway, S
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Źródło :
Neurology; 3/9/2010, Vol. 74 Issue 10, p833-838, 6p
Czasopismo naukowe
Tytuł :
Reduction of Glut1 in the neural retina but not the RPE alleviates polyol accumulation and normalizes early characteristics of diabetic retinopathy.
Autorzy :
Holoman NC; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH 44106.
Aiello JJ; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH 44106.
Trobenter TD; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH 44106.
Tarchick MJ; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH 44106.
Kozlowski MR; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH 44106.
Makowski ER; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH 44106.
De Vivo DC; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032.
Singh C; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195.
Sears JE; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195.
Samuels IS; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH 44106 .; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195.
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Źródło :
The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2021 Feb 22. Date of Electronic Publication: 2021 Feb 22.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice.
Autorzy :
Tang M; Department of Neurology and.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, USA.
Park SH; Department of Neurology and.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, USA.
Petri S; Department of Genetics & Development and the Institute for Genomic Medicine, Columbia University, New York, New York, USA.
Yu H; Departments of Biomedical Engineering and Radiology, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, New York, USA.
Rueda CB; Department of Neurology and.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, USA.
Abel ED; Fraternal Order of Eagles Diabetes Research Center and Division of Endocrinology and Metabolism, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Kim CY; Departments of Biomedical Engineering and Radiology, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, New York, USA.
Hillman EM; Departments of Biomedical Engineering and Radiology, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, New York, USA.
Li F; Department of Neurology and.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, USA.
Lee Y; Columbia Stem Cell Initiative and Department of Microbiology & Immunology, Columbia University Irving Medical Center, New York, New York, USA.
Ding L; Columbia Stem Cell Initiative and Department of Microbiology & Immunology, Columbia University Irving Medical Center, New York, New York, USA.
Jagadish S; Rare & Neurological Diseases Research, Sanofi Genzyme, Framingham, Massachusetts, USA.
Frankel WN; Department of Genetics & Development and the Institute for Genomic Medicine, Columbia University, New York, New York, USA.
De Vivo DC; Department of Neurology and.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, USA.
Monani UR; Department of Neurology and.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, USA.; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.
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Źródło :
JCI insight [JCI Insight] 2021 Feb 08; Vol. 6 (3). Date of Electronic Publication: 2021 Feb 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Autorzy :
Verberne EA; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Goh S; Department of Clin Genet, Liverpool Hospital, Sydney, Australia.
England J; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
van Ginkel M; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba.
Rafael-Croes L; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba.
Maas S; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Polstra A; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Bosanko KA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Bedoukian E; Roberts Individualized Medical Genetics Center and the Division of Hum Genet, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Izumi K; Roberts Individualized Medical Genetics Center and the Division of Hum Genet, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Chaudhry A; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Robin NH; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, AL, USA.
Boothe M; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, AL, USA.
Lippa NC; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Aggarwal V; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Lehman A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Study C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Stockler S; Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), CHU Dijon-Bourgogne, Dijon, France.
Isidor B; Service de génétique médicale, CHU de Nantes, Nantes, France.
Lemons J; Department of Pediatrics, UTHealth McGovern Medical School, Houston, TX, USA.
Rodriguez-Buritica DF; Department of Pediatrics, UTHealth McGovern Medical School, Houston, TX, USA.
Richmond CM; Victorian Clin Genet Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; School of Medicine, Griffith University, Gold Coast, QLD, Australia.
Stark Z; Victorian Clin Genet Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Agrawal PB; Divisions of Newborn Medicine and Genetics & Genomics, Department of Pediatrics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Meuwissen MEC; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
Koolen DA; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Pfundt R; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Lieden A; Department of Clin Genet, Karolinska University Hospital, Stockholm, Sweden.; Department of molecular medicine and surgery, Karolinska Institutet, Stockholm, Sweden.
Anderlid BM; Department of Clin Genet, Karolinska University Hospital, Stockholm, Sweden.; Department of molecular medicine and surgery, Karolinska Institutet, Stockholm, Sweden.
Glatz D; Département de Médecine, Faculté de médecine, Université de Montréal, and Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Montreal, QC, Canada.
Mannens MMAM; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Bakshi M; Department of Clin Genet, Liverpool Hospital, Sydney, Australia.
Mallette FA; Département de Médecine, Faculté de médecine, Université de Montréal, and Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Montreal, QC, Canada.
van Haelst MM; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands. .
Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 374-383. Date of Electronic Publication: 2020 Oct 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Autorzy :
Trucco F; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Ridout D; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Scoto M; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Coratti G; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Main ML; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Muni Lofra R; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Mayhew AG; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Montes J; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Pane M; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Sansone V; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Albamonte E; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
D'Amico A; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Bertini E; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Messina S; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Bruno C; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Parasuraman D; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Childs AM; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Gowda V; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Willis T; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Ong M; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Marini-Bettolo C; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
De Vivo DC; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Darras BT; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Day J; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Kichula EA; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Mayer OH; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Navas Nazario AA; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Finkel RS; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Mercuri E; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL.
Muntoni F; From the Dubowitz Neuromuscular Centre (F.T., M.S., M.L.M., F.M.) and Population, Policy and Practice Programme (D.R.), UCL GOS Institute of Child Health, London, UK; DINOGMI, University of Genoa (F.T.), IRCCS Istituto G. Gaslini, Italy; NIHR Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.), Great Ormond Street Institute of Child Health, University College London, and Great Ormond Street Hospital Trust, UK; Paediatric Neurology (G.C., M.P., E.M.), Catholic University; Centro Clinico Nemo (G.C., M.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; John Walton Muscular Dystrophy Research Centre (R.M.L., C.M.-B.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; Departments of Neurology and Pediatrics (J.M., D.C.D.V.) and Departments of Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Paediatric Neurology and Centro Clinico Nemo (V.S., E.A.), Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., E.B.), Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M.), University of Messina Paediatric Neurology and Nemo Sud Clinical Centre; Center of Translational and Experimental Myology (C.B.), IRCCS Istituto Giannina Gaslini, Genova, Italy; University Hospitals Birmingham NHSFT (D.P.); Leeds Children Hospital (A.-M.C.); Evelina Children's Hospital (V.G.), London; The Robert Jones and Agnes Hunt Orthopaedic Hospital (T.W.), Oswestry; Sheffield Children's Hospital (M.O.), UK; Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; Stanford University (J.D.), Medical Centre, Palo Alto, CA; Divisions of Pediatric Neurology (E.A.K.), Pulmonology (O.H.M.) and Physical Therapy (A.M.G.), The Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Divisions of Neurology (R.S.F.) and Pulmonary Medicine (A.A.N.N.), Department of Pediatrics, Nemours Children's Hospital, Orlando, FL. .
Pokaż więcej
Corporate Authors :
International SMA Consortium (iSMAc)
Źródło :
Neurology [Neurology] 2021 Jan 26; Vol. 96 (4), pp. e587-e599. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Internationality*
Respiration Disorders/*diagnosis
Respiration Disorders/*epidemiology
Spinal Muscular Atrophies of Childhood/*diagnosis
Spinal Muscular Atrophies of Childhood/*epidemiology
Adolescent ; Child ; Cohort Studies ; Female ; Follow-Up Studies ; Humans ; Male ; Respiration Disorders/physiopathology ; Retrospective Studies ; Spinal Muscular Atrophies of Childhood/physiopathology
Czasopismo naukowe
Tytuł :
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Autorzy :
Sharma R; Howard Hughes Medical Institute, Department of Molecular Biology, and.; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute, Cambridge, Massachusetts, USA.
Reinstadler B; Howard Hughes Medical Institute, Department of Molecular Biology, and.; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute, Cambridge, Massachusetts, USA.
Engelstad K; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Skinner OS; Howard Hughes Medical Institute, Department of Molecular Biology, and.; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute, Cambridge, Massachusetts, USA.
Stackowitz E; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Haller RG; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, Texas, USA.
Clish CB; Broad Institute, Cambridge, Massachusetts, USA.
Pierce K; Broad Institute, Cambridge, Massachusetts, USA.
Walker MA; Howard Hughes Medical Institute, Department of Molecular Biology, and.; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute, Cambridge, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Fryer R; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Mao X; Department of Radiology, Weill Cornell Medicine, New York, New York, USA.
Shungu DC; Department of Radiology, Weill Cornell Medicine, New York, New York, USA.
Khatri A; Endocrine Division and Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Hirano M; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
De Vivo DC; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Mootha VK; Howard Hughes Medical Institute, Department of Molecular Biology, and.; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute, Cambridge, Massachusetts, USA.
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Źródło :
The Journal of clinical investigation [J Clin Invest] 2021 Jan 19; Vol. 131 (2).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical Variability in Spinal Muscular Atrophy Type III.
Autorzy :
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Lucibello S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Montes J; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, NY.
Pasternak A; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Bovis F; Department of Health Sciences (DISSAL), University of Genova, Genoa, Italy.
Exposito Escudero J; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Déu, ISCIII, CIBERER, Barcelona, Spain.
Mazzone ES; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Mayhew A; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Glanzman AM; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA.
Young SD; Department of Neurology, Stanford University, Stanford, CA.
Salazar R; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Duong T; Department of Neurology, Stanford University, Stanford, CA.
Muni Lofra R; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
De Sanctis R; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Carnicella S; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Milev E; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Civitello M; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN.
Pane M; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Bettolo CM; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Antonaci L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Frongia A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Sframeli M; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Vita GL; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Van Den Hauwe M; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Albamonte E; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Darras BT; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Sansone V; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
Day J; Department of Neurology, Stanford University, Stanford, CA.
Nascimento Osorio A; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Déu, ISCIII, CIBERER, Barcelona, Spain.
Bruno C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
De Vivo DC; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
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Źródło :
Annals of neurology [Ann Neurol] 2020 Dec; Vol. 88 (6), pp. 1109-1117. Date of Electronic Publication: 2020 Oct 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Spinal Muscular Atrophies of Childhood/*diagnosis
Spinal Muscular Atrophies of Childhood/*genetics
Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Disease Progression ; Female ; Gene Dosage/genetics ; Humans ; Male ; Models, Neurological ; Survival of Motor Neuron 2 Protein/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Transient hyperreflexia: An early diagnostic clue in later-onset spinal muscular atrophy.
Autorzy :
Oskoui M; Departments of Pediatric and Neurology/Neurosurgery (MO) and Faculty of Medicine (DHK), McGill University, Montréal, QC, Canada; and Departments of Pathology and Cell Biology and Neurology (GZM), Center for Motor Neuron Biology and Disease (GZM, DCDV), and Departments of Neurology and Pediatrics (DCDV), Columbia University, New York.
Kim DH; Departments of Pediatric and Neurology/Neurosurgery (MO) and Faculty of Medicine (DHK), McGill University, Montréal, QC, Canada; and Departments of Pathology and Cell Biology and Neurology (GZM), Center for Motor Neuron Biology and Disease (GZM, DCDV), and Departments of Neurology and Pediatrics (DCDV), Columbia University, New York.
Mentis GZ; Departments of Pediatric and Neurology/Neurosurgery (MO) and Faculty of Medicine (DHK), McGill University, Montréal, QC, Canada; and Departments of Pathology and Cell Biology and Neurology (GZM), Center for Motor Neuron Biology and Disease (GZM, DCDV), and Departments of Neurology and Pediatrics (DCDV), Columbia University, New York.
De Vivo DC; Departments of Pediatric and Neurology/Neurosurgery (MO) and Faculty of Medicine (DHK), McGill University, Montréal, QC, Canada; and Departments of Pathology and Cell Biology and Neurology (GZM), Center for Motor Neuron Biology and Disease (GZM, DCDV), and Departments of Neurology and Pediatrics (DCDV), Columbia University, New York.
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Źródło :
Neurology. Clinical practice [Neurol Clin Pract] 2020 Dec; Vol. 10 (6), pp. e66-e67.
Typ publikacji :
Case Reports
Raport
Tytuł :
Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.
Autorzy :
Magrinelli F; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Mulroy E; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Schneider SA; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Latorre A; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Di Lazzaro G; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Hennig A; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Grünewald S; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
De Vivo DC; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Bhatia KP; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY. .
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Źródło :
Neurology [Neurology] 2020 Sep 15; Vol. 95 (11), pp. 500-501. Date of Electronic Publication: 2020 Aug 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Carbohydrate Metabolism, Inborn Errors/*physiopathology
Gait/*physiology
Monosaccharide Transport Proteins/*deficiency
Carbohydrate Metabolism, Inborn Errors/genetics ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Monosaccharide Transport Proteins/genetics
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.
Autorzy :
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Lucibello S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Montes J; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, United States; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, United States.
Pasternak A; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Mayhew A; The John Walton Muscular Dystrophy Research Centre, Newcastle University, Integrated Laboratory Medicine Directorate, Institute of Genetic Medicine, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia.
Young SD; Department of Neurology, Stanford University, Stanford, CA, United States.
Pane M; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London.
Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Osorio AN; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona, Spain.
Pedemonte M; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Sansone V; Neurorehabilitation Unit, University of Milan, The NEMO Clinical Center in Milan, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino GesùChildren's Hospital, Rome, Italy.
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, United States.
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, United States.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address: .
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Corporate Authors :
ISMAC group and collaborators.
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Sep; Vol. 30 (9), pp. 756-764. Date of Electronic Publication: 2020 Jul 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Autorzy :
Klepper J; Children's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany.
Akman C; Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA.
Armeno M; Department of Nutrition Hospital Pediatria JP Garrahan Buenos Aires Argentina.
Auvin S; Department of Pediatric Neurology CHU Hôpital Robert Debre APHP Paris France.
Cervenka M; Department of Neurology Comprehensive Epilepsy Center Johns Hopkins University School of Medicine Baltimore MD USA.
Cross HJ; UCL NIHR BRC Great Ormond Street Institute of Child Health London UK.
De Giorgis V; Department of Child Neurology and Psychiatry IRCCS Mondino Foundation Pavia Italy.
Della Marina A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg-Essen Essen Germany.
Engelstad K; Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA.
Heussinger N; Department of Pediatric Neurology Paracelsus Medical Private University Nuremberg Germany.
Kossoff EH; Departments of Neurology and Pediatrics Johns Hopkins University Baltimore MD USA.
Leen WG; Department of Neurology Canisius Wilhemina Hospital Nijmegen The Netherlands.
Leiendecker B; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg-Essen Essen Germany.
Monani UR; Center for Motor Neuron Biology & Disease Departments of Neurology and Pathology & Cell Biology Columbia University Irving Medical Center New York NY USA.
Oguni H; Department of Pediatrics Tokyo Women's Medical University Tokyo Japan.
Neal E; Matthew's Friends Charity & Clinics Lingfield UK.
Pascual JM; Departments of Neurology and Neurotherapeutics, Physiology and Pediatrics Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center Dallas TX USA.
Pearson TS; Mount Sinai Center for Headache & Pain Medicine New York NY USA.
Pons R; First Department of Pediatrics Agia Sofia Hospital University of Athens Athens Greece.
Scheffer IE; Florey and Murdoch Institutes Austin Health and Royal Children's Hospital The University of Melbourne Melbourne Victoria Australia.
Veggiotti P; Pediatric Neurology V. Buzzi Hospital Child Neuropsychiatry University of Milan Milan Italy.
Willemsen M; Department of Pediatric Neurology Radboud University Medical Centre Amalia Children's Hospital Nijmegen Netherlands.
Zuberi SM; Royal Hospital for Children & College of Medical Veterinary & Life Sciences University of Glasgow Glasgow UK.
De Vivo DC; Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA.
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Źródło :
Epilepsia open [Epilepsia Open] 2020 Aug 13; Vol. 5 (3), pp. 354-365. Date of Electronic Publication: 2020 Aug 13 (Print Publication: 2020).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Longitudinal natural history of type I spinal muscular atrophy: a critical review.
Autorzy :
Mercuri E; Paediatric Neurology, Catholic University, Rome, Italy. .; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. .
Lucibello S; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Perulli M; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Coratti G; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
de Sanctis R; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pera MC; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pane M; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Montes J; Departments of Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, USA.; Department of Neurology, Columbia University Medical Center, New York, USA.
de Vivo DC; Department of Neurology, Columbia University Medical Center, New York, USA.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Kolb SJ; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Finkel RS; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Apr 05; Vol. 15 (1), pp. 84. Date of Electronic Publication: 2020 Apr 05.
Typ publikacji :
Journal Article; Review; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Limitations of 6-minute walk test reference values for spinal muscular atrophy.
Autorzy :
Goodwin AM; Department of Rehabilitation and Regenerative Medicine, Program in Physical Therapy, Columbia University Irving Medical Center, New York, New York.; Teachers College, Columbia University, New York, New York.
Cornett KMD; Department of Neurology, Columbia University Irving Medical Center, New York, New York.
McKay MJ; The University of Sydney & The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Burns J; The University of Sydney & The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Garber CE; Teachers College, Columbia University, New York, New York.
De Vivo DC; Department of Neurology, Columbia University Irving Medical Center, New York, New York.
Montes J; Department of Rehabilitation and Regenerative Medicine, Program in Physical Therapy, Columbia University Irving Medical Center, New York, New York.; Department of Neurology, Columbia University Irving Medical Center, New York, New York.
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Źródło :
Muscle & nerve [Muscle Nerve] 2020 Mar; Vol. 61 (3), pp. 375-382. Date of Electronic Publication: 2020 Jan 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal/*diagnosis
Walk Test/*standards
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Muscular Atrophy, Spinal/physiopathology ; Reference Values
Czasopismo naukowe
Tytuł :
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1.
Autorzy :
Dunaway Young S; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
Montes J; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Salazar R; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Physical Therapy and Occupational Therapy, Boston Children's Hospital, Boston, MA, USA.
Mirek E; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Physical Therapy and Occupational Therapy, Boston Children's Hospital, Boston, MA, USA.
Martens W; Department of Neurology, University of Rochester, Rochester, NY, USA.
Finkel RS; Department of Pediatrics, Division of Neurology, Nemours Children's Hospital, Orlando, FL, USA.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
De Vivo DC; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (2), pp. 183-192.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Orthopedic Procedures*/adverse effects
Outcome and Process Assessment, Health Care*
Postoperative Complications*
Movement Disorders/*physiopathology
Scoliosis/*surgery
Spinal Muscular Atrophies of Childhood/*physiopathology
Spinal Muscular Atrophies of Childhood/*surgery
Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Male ; Movement Disorders/etiology ; Scoliosis/etiology ; Spinal Muscular Atrophies of Childhood/complications
Czasopismo naukowe
Tytuł :
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.
Autorzy :
Finkel RS; Department of Pediatrics, Division of Neurology, Nemours Children's Hospital, Orlando, FL, United States.
Day JW; Department of Neurology, Stanford University Medical Center, Stanford, CA, United States.
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, United States.
Kirschner J; Clinic for Neuropediatrics and Muscle Disease, University Medical Center Freiburg, Freiburg, Germany.
Mercuri E; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy.
Muntoni F; Department of Developmental Neuroscience, University College London, London, UK.
Shieh PB; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.
Tizzano E; Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain.
Desguerre I; Hôpital Necker Enfants Malades, APHP, Paris.
Quijano-Roy S; Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France.
Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Droege M; AveXis, Inc., Bannockburn, IL, United States.
Dabbous O; AveXis, Inc., Bannockburn, IL, United States.
Khan F; AveXis, Inc., Bannockburn, IL, United States.
Renault L; AveXis, Switzerland GmbH, Zurich, Switzerland.
Anderson FA; Center for Outcomes Research, University of Massachusetts Medical School, Worcester, MA, United States.
Servais L; Oxford Neuromuscular Center, Oxford University, UK.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (2), pp. 145-152.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/physiopathology
Muscular Atrophy, Spinal*/therapy
Registries*
Research Design*
Humans ; Prospective Studies ; Rare Diseases
Czasopismo naukowe
Tytuł :
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Autorzy :
Lyon GJ; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.
Marchi E; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.
Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York 11211, USA.
Meiner V; Faculty of Medicine, Hebrew University, Jerusalem 9112001, Israel.; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel.
Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York 11211, USA.
Scher S; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York 11211, USA.
Yang E; Department of Radiology, Boston Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.
De Vivo DC; Columbia University Irving Medical Center, The Neurological Institute, New York, New York 10032, USA.
Madrid R; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.
Li Q; Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Ontario M5G 2C1, Canada.
Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Haworth A; Congenica Ltd, Biodata Innovation Centre, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
Chilton I; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA.
Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA.
Velinov M; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.
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Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Dec 13; Vol. 5 (6). Date of Electronic Publication: 2019 Dec 13 (Print Publication: 2019).
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Intracellular Signaling Peptides and Proteins/*genetics
Membrane Proteins/*genetics
Retinitis Pigmentosa/*genetics
Adolescent ; Brain/pathology ; Exome/genetics ; Family ; Female ; Homozygote ; Humans ; Intracellular Signaling Peptides and Proteins/metabolism ; Male ; Membrane Proteins/metabolism ; Mutation/genetics ; Paraparesis, Spastic/genetics ; Pedigree ; Phenotype ; Retina/pathology ; Retinitis Pigmentosa/metabolism ; Siblings ; Syndrome ; Whole Exome Sequencing/methods ; Young Adult
Czasopismo naukowe
Tytuł :
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
Autorzy :
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Hwu WL; Departments of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Finkel RS; Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Neuropediatrics, University Medical Hospital, Bonn, Germany.
Kuntz NL; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Parsons JA; Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA.
Ryan MM; Royal Children's Hospital, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.
Butterfield RJ; Department of Pediatrics and Neurology, University of Utah, Salt Lake City, UT, USA.
Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.
Ben-Omran T; Sidra Medicine, Department of Pediatrics, Qatar Foundation, Doha, Qatar; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Sansone VA; NEMO Clinical Center - NEuroMuscular Omniservice, Milan, Italy; Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy.
Jong YJ; Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University; Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Shu F; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Staropoli JF; Biogen, Cambridge, MA, USA.
Kerr D; Biogen, Cambridge, MA, USA.
Sandrock AW; Biogen, Cambridge, MA, USA.
Stebbins C; Biogen, Cambridge, MA, USA.
Petrillo M; Biogen, Cambridge, MA, USA.
Braley G; Biogen, Cambridge, MA, USA.
Johnson K; Biogen, Cambridge, MA, USA.
Foster R; Biogen, Maidenhead, Berkshire, UK.
Gheuens S; Biogen, Cambridge, MA, USA.
Bhan I; Biogen, Cambridge, MA, USA.
Reyna SP; Biogen, Cambridge, MA, USA.
Fradette S; Biogen, Cambridge, MA, USA.
Farwell W; Biogen, Cambridge, MA, USA.
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Corporate Authors :
NURTURE Study Group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Nov; Vol. 29 (11), pp. 842-856. Date of Electronic Publication: 2019 Sep 12.
Typ publikacji :
Clinical Trial, Phase II; Journal Article; Multicenter Study
MeSH Terms :
Muscular Atrophy, Spinal/*therapy
Oligonucleotides/*administration & dosage
Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Motor Activity ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/physiopathology ; Oligonucleotides/adverse effects ; Survival of Motor Neuron 2 Protein/genetics ; Time Factors ; Treatment Outcome
Czasopismo naukowe

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